Incidental Mutation 'R9594:Mrfap1'
ID 723150
Institutional Source Beutler Lab
Gene Symbol Mrfap1
Ensembl Gene ENSMUSG00000055302
Gene Name Morf4 family associated protein 1
Synonyms PAM14, 9130413I22Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9594 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 36952211-36954098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36953807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 44 (R44L)
Ref Sequence ENSEMBL: ENSMUSP00000067135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068795]
AlphaFold Q9CQL7
Predicted Effect probably damaging
Transcript: ENSMUST00000068795
AA Change: R44L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067135
Gene: ENSMUSG00000055302
AA Change: R44L

DomainStartEndE-ValueType
Pfam:MRFAP1 1 125 9.8e-50 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an intracellular protein that interacts with members of the MORF4/MRG (mortality factor on chromosome 4/MORF4 related gene) family and the tumor suppressor Rb (retinoblastoma protein.) The protein may play a role in senescence, cell growth and immortalization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygous null mice are viable, fertile, develop normally, have normal T cell development and function, and produce MEFs with normal growth rates and times to senescence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aida T C 1: 183,095,012 (GRCm39) V151A possibly damaging Het
Akap3 T C 6: 126,842,377 (GRCm39) V332A probably damaging Het
Apobec3 T A 15: 79,790,653 (GRCm39) W332R Het
Atf6 A G 1: 170,668,402 (GRCm39) V166A probably benign Het
Bcl6b A G 11: 70,118,858 (GRCm39) probably null Het
Brd3 G T 2: 27,340,373 (GRCm39) P612Q probably damaging Het
Btg1 T A 10: 96,453,263 (GRCm39) L26H probably damaging Het
Btg4 A G 9: 51,030,560 (GRCm39) D220G probably damaging Het
Cd209e T C 8: 3,901,183 (GRCm39) D157G probably benign Het
Cdhr18 A T 14: 13,814,959 (GRCm38) L858Q unknown Het
Cimip2b T G 4: 43,427,329 (GRCm39) T332P unknown Het
Dnah10 T C 5: 124,907,107 (GRCm39) L4269P probably damaging Het
Dync1li2 C A 8: 105,154,752 (GRCm39) K285N possibly damaging Het
Ehmt2 C A 17: 35,118,740 (GRCm39) Q198K possibly damaging Het
Foxn3 C A 12: 99,359,294 (GRCm39) probably benign Het
Fstl4 C T 11: 52,664,694 (GRCm39) P8L probably benign Het
G6pc1 T C 11: 101,258,660 (GRCm39) I13T possibly damaging Het
Ghrhr A G 6: 55,362,470 (GRCm39) I356V probably benign Het
Gm14410 A T 2: 176,885,773 (GRCm39) C164S probably damaging Het
Gpcpd1 A T 2: 132,388,848 (GRCm39) M308K possibly damaging Het
Gpr143 GTTTTTT GTTTTTTT X: 151,578,627 (GRCm39) probably null Het
Gpr179 T C 11: 97,225,727 (GRCm39) K2143E probably benign Het
Grm2 G A 9: 106,524,408 (GRCm39) T298I probably damaging Het
H2-T24 A T 17: 36,326,455 (GRCm39) L148Q probably damaging Het
Hcn2 C T 10: 79,560,559 (GRCm39) R297C probably damaging Het
Hic1 T C 11: 75,056,757 (GRCm39) T711A possibly damaging Het
Ide T C 19: 37,264,514 (GRCm39) D672G Het
Impg1 A G 9: 80,288,923 (GRCm39) F378S probably damaging Het
Lipe T C 7: 25,098,128 (GRCm39) probably benign Het
Lmo7 A G 14: 102,156,136 (GRCm39) D1270G probably null Het
Mbnl1 A T 3: 60,520,859 (GRCm39) H149L probably damaging Het
Mmel1 T C 4: 154,978,592 (GRCm39) Y675H probably benign Het
Nherf2 G T 17: 24,868,922 (GRCm39) T68K probably damaging Het
Notch2 A G 3: 98,041,889 (GRCm39) T1303A possibly damaging Het
Olfm3 A G 3: 114,883,785 (GRCm39) D62G probably damaging Het
Or10ak13 T C 4: 118,638,952 (GRCm39) I277V probably benign Het
Or2i1 C G 17: 37,508,308 (GRCm39) A109P possibly damaging Het
Or5g27 C T 2: 85,409,882 (GRCm39) Q100* probably null Het
Or5l13 T C 2: 87,780,544 (GRCm39) E11G probably damaging Het
Or5p59 T G 7: 107,702,663 (GRCm39) I49S probably damaging Het
Or6c8b T A 10: 128,882,354 (GRCm39) I193F probably benign Het
Pcbd2 A G 13: 55,880,849 (GRCm39) Y68C probably benign Het
Phf3 G C 1: 30,869,003 (GRCm39) Q682E probably benign Het
Ptpn6 C A 6: 124,704,728 (GRCm39) R294L probably benign Het
Ptprz1 T A 6: 23,025,026 (GRCm39) V1754D probably damaging Het
Rab36 T A 10: 74,887,873 (GRCm39) I248K probably damaging Het
Rabac1 A G 7: 24,671,579 (GRCm39) Y114H probably benign Het
Rag1 A G 2: 101,474,701 (GRCm39) V147A probably benign Het
Rnf150 T A 8: 83,717,144 (GRCm39) V217D probably damaging Het
Scarf2 G T 16: 17,620,473 (GRCm39) C101F probably damaging Het
Sh3glb2 C T 2: 30,236,672 (GRCm39) R230Q probably damaging Het
Slc13a1 A G 6: 24,089,100 (GRCm39) V550A probably damaging Het
Sp140 A G 1: 85,560,235 (GRCm39) N289S possibly damaging Het
Spmip6 T C 4: 41,505,091 (GRCm39) E207G Het
Stac3 T A 10: 127,338,654 (GRCm39) M1K probably null Het
Stk31 C T 6: 49,424,221 (GRCm39) T845I possibly damaging Het
Sufu T C 19: 46,385,674 (GRCm39) Y45H probably damaging Het
Tg T A 15: 66,607,109 (GRCm39) C1834* probably null Het
Tns3 G A 11: 8,401,142 (GRCm39) T1052M possibly damaging Het
Tpcn1 T C 5: 120,686,021 (GRCm39) T427A possibly damaging Het
Trim45 A G 3: 100,830,265 (GRCm39) H13R probably benign Het
Trpv5 A G 6: 41,647,773 (GRCm39) F347L probably benign Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Zfp236 G T 18: 82,664,238 (GRCm39) Q516K probably damaging Het
Other mutations in Mrfap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1296:Mrfap1 UTSW 5 36,953,817 (GRCm39) missense possibly damaging 0.86
R1472:Mrfap1 UTSW 5 36,953,817 (GRCm39) missense possibly damaging 0.86
R1612:Mrfap1 UTSW 5 36,953,706 (GRCm39) missense probably damaging 1.00
R4912:Mrfap1 UTSW 5 36,954,089 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TTTACTCCCGAGGCGACAAG -3'
(R):5'- AAGTTTTGAGGACTCGGCC -3'

Sequencing Primer
(F):5'- AGCATCTCGGCCATCTTCG -3'
(R):5'- CCGAGCTCCGTCCGTGAG -3'
Posted On 2022-08-09